Canonical Allele Identifier: CA3234813

Gene: NADK2

Linked Data

• ClinVar Variation Id: 379997
• ClinVar RCV Id: RCV000444059
• dbSNP Id: rs62356073
• ExAC: 5:36241922 G / A
• gnomAD v2: 5-36241922-G-A
• gnomAD v3: 5-36241820-G-A
• gnomAD v4: 5-36241820-G-A
• MyVariant Identifiers: chr5:g.36241922G>A (hg19) ; chr5:g.36241820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36241820G>A , CM000667.2:g.36241820G>A	GRCh38
NC_000005.9:g.36241922G>A , CM000667.1:g.36241922G>A	GRCh37
NC_000005.8:g.36277679G>A	NCBI36
NG_041784.1:g.5460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381937.9:c.-22C>T MANE Select	ENSP00000371362.4:n.-22C>T
ENST00000282512.7:c.-190+276C>T	ENSP00000282512.3:n.-190+276C>T
ENST00000506945.5:c.-190+276C>T	ENSP00000422250.1:n.-190+276C>T
ENST00000511088.1:c.-190+143C>T	ENSP00000426084.1:n.-190+143C>T
NM_001287341.1:c.-190+276C>T	NP_001274270.1:n.-190+276C>T
NM_153013.4:c.-190+276C>T	NP_694558.1:n.-190+276C>T
XM_005248241.3:c.-22C>T	XP_005248298.1:n.-22C>T
XM_011513954.1:c.-190+143C>T	XP_011512256.1:n.-190+143C>T
XM_005248241.4:c.-22C>T	XP_005248298.1:n.-22C>T
XM_024454360.1:c.-190+143C>T	XP_024310128.1:n.-190+143C>T
NM_001085411.3:c.-22C>T MANE Select	NP_001078880.1:n.-22C>T
NM_001287341.2:c.-190+276C>T	NP_001274270.1:n.-190+276C>T
NM_153013.5:c.-190+276C>T	NP_694558.1:n.-190+276C>T